ClinVar Miner

List of variants studied for WHIM syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_003467.3(CXCR4):c.414C>T (p.Ile138=) rs2228014 0.03364
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00242
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00041
NM_003467.3(CXCR4):c.708G>A (p.Lys236=) rs199713103 0.00036
NM_003467.3(CXCR4):c.945C>T (p.His315=) rs144110709 0.00029
NM_003467.3(CXCR4):c.153T>A (p.Thr51=) rs145879963 0.00021
NM_003467.3(CXCR4):c.294C>T (p.Ala98=) rs142289207 0.00021
NM_003467.3(CXCR4):c.861C>T (p.Thr287=) rs535778934 0.00016
NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn) rs199535487 0.00015
NM_003467.3(CXCR4):c.676C>T (p.Leu226=) rs180746866 0.00011
NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773 0.00008
NM_003467.3(CXCR4):c.16-14T>A rs1053292586 0.00008
NM_003467.3(CXCR4):c.453G>A (p.Leu151=) rs1160274529 0.00008
NM_003467.3(CXCR4):c.506T>C (p.Ile169Thr) rs371317659 0.00008
NM_003467.3(CXCR4):c.704G>A (p.Arg235His) rs377287446 0.00006
NM_003467.3(CXCR4):c.219G>A (p.Thr73=) rs909200339 0.00005
NM_003467.3(CXCR4):c.444G>A (p.Arg148=) rs374115177 0.00005
NM_003467.3(CXCR4):c.575A>G (p.Asn192Ser) rs148190725 0.00005
NM_003467.3(CXCR4):c.582G>C (p.Leu194Phe) rs769772228 0.00005
NM_003467.3(CXCR4):c.653G>C (p.Cys218Ser) rs756207760 0.00005
NM_003467.3(CXCR4):c.748G>A (p.Ala250Thr) rs771851938 0.00005
NM_003467.3(CXCR4):c.795C>T (p.Ile265=) rs960174502 0.00005
NM_003467.3(CXCR4):c.87C>T (p.Phe29=) rs768296315 0.00005
NM_003467.3(CXCR4):c.843C>T (p.His281=) rs980319409 0.00004
NM_003467.3(CXCR4):c.250G>C (p.Asp84His) rs368016542 0.00003
NM_003467.3(CXCR4):c.420C>T (p.His140=) rs774159824 0.00003
NM_003467.3(CXCR4):c.528C>T (p.Asn176=) rs113338664 0.00003
NM_003467.3(CXCR4):c.957T>G (p.Ser319=) rs2467263278 0.00003
NM_003467.3(CXCR4):c.1008A>G (p.Gly336=) rs755102336 0.00002
NM_003467.3(CXCR4):c.188T>C (p.Met63Thr) rs773216142 0.00002
NM_003467.3(CXCR4):c.249C>T (p.Ala83=) rs1013459896 0.00002
NM_003467.3(CXCR4):c.267C>T (p.Ile89=) rs778631569 0.00002
NM_003467.3(CXCR4):c.270G>A (p.Thr90=) rs753770848 0.00002
NM_003467.3(CXCR4):c.295G>A (p.Val99Met) rs755899324 0.00002
NM_003467.3(CXCR4):c.415G>A (p.Val139Ile) rs1451071577 0.00002
NM_003467.3(CXCR4):c.1001G>C (p.Arg334Pro) rs748189454 0.00001
NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr) rs148454403 0.00001
NM_003467.3(CXCR4):c.1032T>C (p.Ser344=) rs758871604 0.00001
NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly) rs750756138 0.00001
NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys) rs147467366 0.00001
NM_003467.3(CXCR4):c.15+18C>T rs774545896 0.00001
NM_003467.3(CXCR4):c.16-24T>C rs776615103 0.00001
NM_003467.3(CXCR4):c.171A>G (p.Gly57=) rs533290861 0.00001
NM_003467.3(CXCR4):c.345C>G (p.Ile115Met) rs1051557 0.00001
NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) rs1001278766 0.00001
NM_003467.3(CXCR4):c.39C>G (p.Thr13=) rs375868851 0.00001
NM_003467.3(CXCR4):c.437G>A (p.Arg146Lys) rs542113929 0.00001
NM_003467.3(CXCR4):c.473T>C (p.Val158Ala) rs780780627 0.00001
NM_003467.3(CXCR4):c.477C>T (p.Gly159=) rs1259138331 0.00001
NM_003467.3(CXCR4):c.478G>A (p.Val160Ile) rs147198552 0.00001
NM_003467.3(CXCR4):c.501G>A (p.Leu167=) rs765419581 0.00001
NM_003467.3(CXCR4):c.516C>A (p.Phe172Leu) rs764678610 0.00001
NM_003467.3(CXCR4):c.549A>G (p.Arg183=) rs1684855376 0.00001
NM_003467.3(CXCR4):c.552T>C (p.Tyr184=) rs770667555 0.00001
NM_003467.3(CXCR4):c.586G>A (p.Val196Met) rs748098105 0.00001
NM_003467.3(CXCR4):c.5A>G (p.Glu2Gly) rs1226785105 0.00001
NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu) rs762937679 0.00001
NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu) rs779760942 0.00001
NM_003467.3(CXCR4):c.865G>A (p.Ala289Thr) rs1034031817 0.00001
NM_003467.3(CXCR4):c.89G>A (p.Arg30His) rs923351521 0.00001
NM_003467.3(CXCR4):c.933C>G (p.Thr311=) rs1350792475 0.00001
NM_003467.3(CXCR4):c.964A>G (p.Arg322Gly) rs745632311 0.00001
NC_000002.11:g.(?_135809878)_(136875630_?)del
NC_000002.12:g.(?_135950413)_(136118080_?)del
NC_000002.12:g.(?_135950413)_(136118080_?)dup
NM_003467.3(CXCR4):c.1000C>G (p.Arg334Gly) rs104893624
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter) rs2104915575
NM_003467.3(CXCR4):c.1009del (p.His337fs)
NM_003467.3(CXCR4):c.1011T>G (p.His337Gln) rs1338871737
NM_003467.3(CXCR4):c.1012del (p.Ser338fs)
NM_003467.3(CXCR4):c.1014del (p.Ser339fs) rs2104915548
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) rs730880320
NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs) rs2104915518
NM_003467.3(CXCR4):c.1026T>C (p.Thr342=) rs2104915514
NM_003467.3(CXCR4):c.103A>G (p.Asn35Asp) rs779590491
NM_003467.3(CXCR4):c.1042A>G (p.Ser348Gly) rs1573613407
NM_003467.3(CXCR4):c.109A>G (p.Asn37Asp) rs757881953
NM_003467.3(CXCR4):c.10A>G (p.Ile4Val) rs2104922432
NM_003467.3(CXCR4):c.110A>G (p.Asn37Ser) rs749938835
NM_003467.3(CXCR4):c.116T>C (p.Ile39Thr) rs1684871649
NM_003467.3(CXCR4):c.127A>G (p.Thr43Ala)
NM_003467.3(CXCR4):c.132del (p.Tyr45fs) rs1684870931
NM_003467.3(CXCR4):c.15+7C>T rs2104922411
NM_003467.3(CXCR4):c.15+9A>C rs2104922408
NM_003467.3(CXCR4):c.165C>A (p.Gly55=) rs1302147452
NM_003467.3(CXCR4):c.184G>A (p.Val62Ile) rs2467266454
NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) rs560844176
NM_003467.3(CXCR4):c.214A>G (p.Met72Val)
NM_003467.3(CXCR4):c.225del (p.Lys75fs) rs2467266380
NM_003467.3(CXCR4):c.228C>T (p.Tyr76=) rs1684866754
NM_003467.3(CXCR4):c.235C>T (p.His79Tyr) rs2104918076
NM_003467.3(CXCR4):c.249C>G (p.Ala83=)
NM_003467.3(CXCR4):c.250G>A (p.Asp84Asn) rs368016542
NM_003467.3(CXCR4):c.256C>T (p.Leu86Phe) rs889949060
NM_003467.3(CXCR4):c.273T>C (p.Leu91=) rs1025484081
NM_003467.3(CXCR4):c.278T>C (p.Phe93Ser) rs2467266152
NM_003467.3(CXCR4):c.282G>A (p.Trp94Ter) rs2104917984
NM_003467.3(CXCR4):c.296T>A (p.Val99Glu)
NM_003467.3(CXCR4):c.29A>T (p.Asp10Val)
NM_003467.3(CXCR4):c.305G>A (p.Trp102Ter) rs2467266044
NM_003467.3(CXCR4):c.307T>C (p.Tyr103His) rs765237875
NM_003467.3(CXCR4):c.30T>C (p.Asp10=) rs1245012855
NM_003467.3(CXCR4):c.338A>C (p.His113Pro) rs1684862940
NM_003467.3(CXCR4):c.342C>A (p.Val114=) rs2467265953
NM_003467.3(CXCR4):c.363C>T (p.Tyr121=) rs1042544321
NM_003467.3(CXCR4):c.37A>G (p.Thr13Ala)
NM_003467.3(CXCR4):c.394C>G (p.Leu132Val) rs771750319
NM_003467.3(CXCR4):c.39C>A (p.Thr13=)
NM_003467.3(CXCR4):c.39C>T (p.Thr13=) rs375868851
NM_003467.3(CXCR4):c.400C>T (p.Arg134Cys)
NM_003467.3(CXCR4):c.402C>A (p.Arg134=) rs2104917808
NM_003467.3(CXCR4):c.438G>A (p.Arg146=) rs2104917730
NM_003467.3(CXCR4):c.456T>C (p.Ala152=)
NM_003467.3(CXCR4):c.458A>C (p.Glu153Ala) rs1553457905
NM_003467.3(CXCR4):c.475G>A (p.Gly159Ser) rs910532454
NM_003467.3(CXCR4):c.477C>A (p.Gly159=)
NM_003467.3(CXCR4):c.493C>T (p.Leu165Phe)
NM_003467.3(CXCR4):c.504T>A (p.Thr168=) rs2104917313
NM_003467.3(CXCR4):c.50G>A (p.Gly17Asp)
NM_003467.3(CXCR4):c.50G>T (p.Gly17Val)
NM_003467.3(CXCR4):c.518T>C (p.Ile173Thr) rs2467265013
NM_003467.3(CXCR4):c.529G>A (p.Val177Ile) rs767830104
NM_003467.3(CXCR4):c.53C>T (p.Ser18Leu)
NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly) rs2104916956
NM_003467.3(CXCR4):c.564C>T (p.Arg188=)
NM_003467.3(CXCR4):c.579C>T (p.Asp193=)
NM_003467.3(CXCR4):c.584G>A (p.Trp195Ter) rs1447178923
NM_003467.3(CXCR4):c.591del (p.Val198fs) rs2467264488
NM_003467.3(CXCR4):c.618T>C (p.Val206=)
NM_003467.3(CXCR4):c.624T>C (p.Leu208=) rs2104916486
NM_003467.3(CXCR4):c.650C>A (p.Ser217Tyr) rs1406988415
NM_003467.3(CXCR4):c.660C>T (p.Cys220=) rs2104916277
NM_003467.3(CXCR4):c.661A>C (p.Ile221Leu) rs1684851586
NM_003467.3(CXCR4):c.666C>T (p.Ile222=)
NM_003467.3(CXCR4):c.685T>A (p.Ser229Thr)
NM_003467.3(CXCR4):c.695A>G (p.His232Arg) rs1684850384
NM_003467.3(CXCR4):c.703C>T (p.Arg235Cys)
NM_003467.3(CXCR4):c.70A>G (p.Met24Val) rs1684873120
NM_003467.3(CXCR4):c.747C>T (p.Phe249=) rs779760942
NM_003467.3(CXCR4):c.751T>A (p.Cys251Ser)
NM_003467.3(CXCR4):c.752G>T (p.Cys251Phe) rs2104916053
NM_003467.3(CXCR4):c.783C>G (p.Ile261Met)
NM_003467.3(CXCR4):c.784G>A (p.Asp262Asn)
NM_003467.3(CXCR4):c.789C>T (p.Ser263=)
NM_003467.3(CXCR4):c.798C>T (p.Leu266=) rs781570700
NM_003467.3(CXCR4):c.7G>T (p.Gly3Trp) rs1684968738
NM_003467.3(CXCR4):c.804A>T (p.Glu268Asp) rs2104915971
NM_003467.3(CXCR4):c.814C>T (p.Gln272Ter) rs2104915939
NM_003467.3(CXCR4):c.831G>C (p.Glu277Asp) rs2104915918
NM_003467.3(CXCR4):c.862G>A (p.Glu288Lys) rs750087956
NM_003467.3(CXCR4):c.870A>G (p.Leu290=) rs1573613626
NM_003467.3(CXCR4):c.871G>A (p.Ala291Thr) rs2104915846
NM_003467.3(CXCR4):c.884G>A (p.Cys295Tyr) rs2467263465
NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer) rs2104915487
NM_003467.3(CXCR4):c.912C>T (p.Phe304=) rs776152740
NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu) rs1684843543
NM_003467.3(CXCR4):c.946G>A (p.Ala316Thr) rs145335491
NM_003467.3(CXCR4):c.952dup (p.Thr318fs) rs1684842255
NM_003467.3(CXCR4):c.956_957del (p.Ser319fs) rs1684841455
NM_003467.3(CXCR4):c.959_960del (p.Val320fs) rs2104915680
NM_003467.3(CXCR4):c.95A>C (p.Glu32Ala)
NM_003467.3(CXCR4):c.963dup (p.Arg322fs) rs2104915668
NM_003467.3(CXCR4):c.967G>A (p.Gly323Arg) rs1684840909
NM_003467.3(CXCR4):c.969dup (p.Ser324fs) rs1684840786
NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly) rs1684840650
NM_003467.3(CXCR4):c.984C>A (p.Ile328=) rs777888690
NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter) rs1240625960

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